Variant report

Variant	rs295551
Chromosome Location	chr5:60404882-60404883
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 208 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:199)

rs_ID	r²[population]
rs10064187	0.97[ASN][1000 genomes]
rs10076937	0.91[ASN][1000 genomes]
rs1038144	0.86[ASN][1000 genomes]
rs10471502	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10514906	0.94[ASN][1000 genomes]
rs10939882	0.88[EUR][1000 genomes]
rs11744756	0.86[ASN][1000 genomes]
rs11951076	0.87[EUR][1000 genomes]
rs11957772	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs124898	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518865	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12522154	0.91[ASN][1000 genomes]
rs13155076	0.91[ASN][1000 genomes]
rs13168191	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13171576	0.88[EUR][1000 genomes]
rs13359074	0.82[ASN][1000 genomes]
rs1382914	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158564	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158570	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158571	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158696	0.88[ASN][1000 genomes]
rs158697	0.88[ASN][1000 genomes]
rs158699	0.88[ASN][1000 genomes]
rs158700	0.88[ASN][1000 genomes]
rs158914	0.91[ASN][1000 genomes]
rs158915	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158918	0.86[ASN][1000 genomes]
rs158919	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158922	0.91[ASN][1000 genomes]
rs158923	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158924	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158927	0.97[ASN][1000 genomes]
rs158929	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158931	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158932	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs158933	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158934	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158935	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158936	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158937	0.86[ASN][1000 genomes]
rs158938	0.91[ASN][1000 genomes]
rs159357	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159358	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159371	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159374	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159375	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159376	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159377	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159378	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159380	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159537	0.87[EUR][1000 genomes]
rs162228	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162234	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162238	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162241	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162242	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162243	0.86[ASN][1000 genomes]
rs162244	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162246	0.86[ASN][1000 genomes]
rs162247	0.89[EUR][1000 genomes]
rs162248	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162251	0.94[ASN][1000 genomes]
rs168710	0.94[ASN][1000 genomes]
rs16878547	0.88[ASN][1000 genomes]
rs16878548	0.88[ASN][1000 genomes]
rs169700	0.94[ASN][1000 genomes]
rs172348	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs172945	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1820082	0.86[ASN][1000 genomes]
rs182410	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs185354	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs187459	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1989653	0.88[ASN][1000 genomes]
rs2080869	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2112365	0.88[EUR][1000 genomes]
rs2120954	0.91[ASN][1000 genomes]
rs2120955	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2263514	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2270822	0.94[ASN][1000 genomes]
rs248677	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248682	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248683	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248685	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248688	0.94[ASN][1000 genomes]
rs2545475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2545478	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2545493	0.85[ASN][1000 genomes]
rs2545503	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256375	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256376	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2590570	0.91[ASN][1000 genomes]
rs2619890	0.94[ASN][1000 genomes]
rs2619893	0.94[ASN][1000 genomes]
rs2650506	0.81[EUR][1000 genomes]
rs2650512	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2650517	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694518	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2694528	0.88[ASN][1000 genomes]
rs2694530	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694531	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28407266	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs290503	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs290506	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs290507	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs290511	0.88[ASN][1000 genomes]
rs290513	0.94[ASN][1000 genomes]
rs290514	0.97[ASN][1000 genomes]
rs290515	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs290516	0.86[EUR][1000 genomes]
rs2950235	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295522	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295524	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295531	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295532	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295533	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295559	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs295560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295561	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295563	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295564	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295566	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs295569	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295573	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295578	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295579	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs295582	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs298629	0.87[EUR][1000 genomes]
rs3101879	0.94[ASN][1000 genomes]
rs3108388	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3117	0.91[ASN][1000 genomes]
rs329622	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs329623	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs329624	0.94[ASN][1000 genomes]
rs329625	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs329626	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34591	0.94[ASN][1000 genomes]
rs34592	0.94[ASN][1000 genomes]
rs34593	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34609	0.87[EUR][1000 genomes]
rs34610	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34613	0.87[EUR][1000 genomes]
rs34614	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34616	0.87[EUR][1000 genomes]
rs34617	0.87[EUR][1000 genomes]
rs34621	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34623	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34624	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34625	0.88[EUR][1000 genomes]
rs34636	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34637	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34638	0.94[ASN][1000 genomes]
rs34639	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34643	0.94[ASN][1000 genomes]
rs34644	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35546392	0.88[ASN][1000 genomes]
rs35617853	0.86[ASN][1000 genomes]
rs35948426	0.91[ASN][1000 genomes]
rs39661	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40084	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs40421	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4141502	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4235483	0.91[ASN][1000 genomes]
rs4235484	0.91[ASN][1000 genomes]
rs42437	0.94[ASN][1000 genomes]
rs4546327	0.86[ASN][1000 genomes]
rs4647102	0.91[ASN][1000 genomes]
rs4647138	0.91[ASN][1000 genomes]
rs4647139	0.91[ASN][1000 genomes]
rs4647151	0.86[ASN][1000 genomes]
rs4647162	0.86[ASN][1000 genomes]
rs4699967	0.83[ASN][1000 genomes]
rs4699969	0.88[EUR][1000 genomes]
rs4700406	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4700410	0.85[ASN][1000 genomes]
rs56409036	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59292447	0.94[ASN][1000 genomes]
rs59797139	0.89[ASN][1000 genomes]
rs6862622	0.94[ASN][1000 genomes]
rs6863749	0.94[ASN][1000 genomes]
rs6868884	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6869073	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869454	0.94[ASN][1000 genomes]
rs6878124	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6886481	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6893210	0.94[ASN][1000 genomes]
rs723276	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7701839	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7706753	0.86[EUR][1000 genomes]
rs7712364	0.94[ASN][1000 genomes]
rs7718028	0.94[ASN][1000 genomes]
rs7721096	0.80[EUR][1000 genomes]
rs7723754	0.94[ASN][1000 genomes]
rs810883	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs810884	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9291702	0.88[ASN][1000 genomes]
rs929780	0.86[ASN][1000 genomes]
rs976080	0.91[ASN][1000 genomes]
rs9763418	0.91[ASN][1000 genomes]
rs976581	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1019307	chr5:60295350-60409077	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv598314	chr5:60374912-60459040	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	esv2449569	chr5:60399886-60406151	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2426519	chr5:60400188-60405057	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs295551	ERCC8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60381000-60419400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:60394200-60405000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:60394400-60415400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:60395400-60428200	Weak transcription	HSMMtube	muscle
5	chr5:60396800-60415400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:60396800-60420400	Weak transcription	Ovary	ovary
7	chr5:60397800-60405000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:60398000-60405000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:60398000-60406000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:60398200-60410600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr5:60398400-60416800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:60398400-60418800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:60398800-60406200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:60398800-60453800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:60402800-60420600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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